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Journal of Human Genetics|December 9, 2022
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiencyXiyue Zhou, Xiaoting Lou, Yuwei Zhou, et al.Journal of Human Genetics|November 28, 2019
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationshipsCarlos Rodríguez-Martín, Cristina Robledo, Gema Gómez-Mariano, et al.Journal of Human Genetics|January 10, 2019
Atypical β-S haplotypes: classification and genetic modulation in patients with sickle cell anemiaJéssika V Okumura, Danilo G H Silva, Lidiane S Torres, et al.Journal of Human Genetics|January 11, 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, et al.Journal of Human Genetics|November 15, 2019
Complete genome and bimodal genomic structure of the amoebal symbiont Neochlamydia strain S13 revealed by ultra-long reads obtained from MinIONJunya Yamagishi, Kyoko Hayashida, Junji Matsuo, et al.Journal of Human Genetics|July 2, 2021
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defectsFenja Markus, Annika Kannengießer, Patricia Näder, et al.Journal of Human Genetics|July 21, 2021
Functional genomics for breast cancer drug target discoveryTetsuro Yoshimaru, Yusuke Nakamura, Toyomasa KatagiriJournal of Human Genetics|July 14, 2021
Cancer predisposition genes in Japanese children with rhabdomyosarcomaHiroko Fukushima, Ryoko Suzuki, Yuni Yamaki, et al.Journal of Human Genetics|May 17, 2013
Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticityAvinash M Veerappa, Marita Saldanha, Prakash Padakannaya, et al.Journal of Human Genetics|April 5, 2013
Powerful tests for association on quantitative trait loci incorporating imprinting effectsFan Xia, Ji-Yuan Zhou, Wing Kam FungPageof 351